{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA118400", "communityStandardTitle": [ "NM_003268.6(TLR5):c.1174C>T (p.Arg392Ter)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM4985968" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21697[alleleid]", "alleleId": 21697, "preferredName": "NM_003268.6(TLR5):c.1174C>T (p.Arg392Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6658", "RCV": [ "RCV000007037", "RCV000007038", "RCV000074501" ], "variationId": 6658 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-223285200-G-A", "id": "1-223285200-G-A", "variant": "1:223285200 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.223285200G>A?assembly=hg19", "id": "chr1:g.223285200G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.223111858G>A?assembly=hg38", "id": "chr1:g.223111858G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/5744168", "rs": 5744168 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-223285200-G-A?dataset=gnomad_r2_1", "id": "1-223285200-G-A", "variant": "1:223285200 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-223111858-G-A?dataset=gnomad_r3", "id": "1-223111858-G-A", "variant": "1:223111858 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-223111858-G-A?dataset=gnomad_r4", "id": "1-223111858-G-A", "variant": "1:223111858 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 223111858, "referenceAllele": "G", "start": 223111857 } ], "hgvs": [ "NC_000001.11:g.223111858G>A", "CM000663.2:g.223111858G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 223285200, "referenceAllele": "G", "start": 223285199 } ], "hgvs": [ "NC_000001.10:g.223285200G>A", "CM000663.1:g.223285200G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 221351823, "referenceAllele": "G", "start": 221351822 } ], "hgvs": [ "NC_000001.9:g.221351823G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 36425, "referenceAllele": "C", "start": 36424 } ], "hgvs": [ "NG_016244.1:g.36425C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003041" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1781, "referenceAllele": "C", "start": 1780 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "ENST00000642603.2:c.1174C>T" ], "proteinEffect": { "hgvs": "ENSP00000496355.1:p.Arg392Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766833", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642603.2:c.1174C>T" }, "RefSeq": { "hgvs": "NM_003268.6:c.1174C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496355.1:p.Arg392Ter" }, "RefSeq": { "hgvs": "NP_003259.2:p.Arg392Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1695, "referenceAllele": "C", "start": 1694 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "ENST00000645434.1:c.1174C>T" ], "proteinEffect": { "hgvs": "ENSP00000493892.1:p.Arg392Ter", "hgvsWellDefined": "ENSP00000493892.1:p.Arg392Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS768348" }, { "coordinates": [ { "allele": "T", "end": 1815, "referenceAllele": "C", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "ENST00000366881.5:c.1174C>T" ], "proteinEffect": { "hgvs": "ENSP00000355846.1:p.Arg392Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS266070" }, { "coordinates": [ { "allele": "T", "end": 1636, "referenceAllele": "C", "start": 1635 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "ENST00000540964.5:c.1174C>T" ], "proteinEffect": { "hgvs": "ENSP00000440643.1:p.Arg392Ter", "hgvsWellDefined": "ENSP00000440643.1:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362682" }, { "@id": "http://reg.genome.network/allele/PA118401", "coordinates": [ { "allele": "T", "end": 1815, "referenceAllele": "C", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "NM_003268.5:c.1174C>T" ], "proteinEffect": { "hgvs": "NP_003259.2:p.Arg392Ter", "hgvsWellDefined": "NP_003259.2:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028520" }, { "coordinates": [ { "allele": "T", "end": 1761, "referenceAllele": "C", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "XM_005273241.3:c.1174C>T" ], "proteinEffect": { "hgvs": "XP_005273298.2:p.Arg392Ter", "hgvsWellDefined": "XP_005273298.2:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067493" }, { "coordinates": [ { "allele": "T", "end": 1881, "referenceAllele": "C", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "XM_005273242.3:c.1174C>T" ], "proteinEffect": { "hgvs": "XP_005273299.2:p.Arg392Ter", "hgvsWellDefined": "XP_005273299.2:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067494" }, { "coordinates": [ { "allele": "T", "end": 1667, "referenceAllele": "C", "start": 1666 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "XM_005273243.3:c.1174C>T" ], "proteinEffect": { "hgvs": "XP_005273300.2:p.Arg392Ter", "hgvsWellDefined": "XP_005273300.2:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067495" }, { "coordinates": [ { "allele": "T", "end": 1699, "referenceAllele": "C", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "XM_006711504.2:c.1174C>T" ], "proteinEffect": { "hgvs": "XP_006711567.1:p.Arg392Ter", "hgvsWellDefined": "XP_006711567.1:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069156" }, { "coordinates": [ { "allele": "T", "end": 1605, "referenceAllele": "C", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "XM_006711505.2:c.1174C>T" ], "proteinEffect": { "hgvs": "XP_006711568.1:p.Arg392Ter", "hgvsWellDefined": "XP_006711568.1:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069157" }, { "coordinates": [ { "allele": "T", "end": 1419, "referenceAllele": "C", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "XM_006711506.2:c.1174C>T" ], "proteinEffect": { "hgvs": "XP_006711569.1:p.Arg392Ter", "hgvsWellDefined": "XP_006711569.1:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069158" }, { "coordinates": [ { "allele": "T", "end": 1821, "referenceAllele": "C", "start": 1820 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "XM_011509937.1:c.1174C>T" ], "proteinEffect": { "hgvs": "XP_011508239.1:p.Arg392Ter", "hgvsWellDefined": "XP_011508239.1:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077202" }, { "coordinates": [ { "allele": "T", "end": 1761, "referenceAllele": "C", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "XM_005273241.4:c.1174C>T" ], "proteinEffect": { "hgvs": "XP_005273298.2:p.Arg392Ter", "hgvsWellDefined": "XP_005273298.2:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537409" }, { "coordinates": [ { "allele": "T", "end": 1881, "referenceAllele": "C", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "XM_005273242.4:c.1174C>T" ], "proteinEffect": { "hgvs": "XP_005273299.2:p.Arg392Ter", "hgvsWellDefined": "XP_005273299.2:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537410" }, { "coordinates": [ { "allele": "T", "end": 1667, "referenceAllele": "C", "start": 1666 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "XM_005273243.4:c.1174C>T" ], "proteinEffect": { "hgvs": "XP_005273300.2:p.Arg392Ter", "hgvsWellDefined": "XP_005273300.2:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537411" }, { "coordinates": [ { "allele": "T", "end": 1706, "referenceAllele": "C", "start": 1705 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "XM_006711504.3:c.1174C>T" ], "proteinEffect": { "hgvs": "XP_006711567.1:p.Arg392Ter", "hgvsWellDefined": "XP_006711567.1:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538014" }, { "coordinates": [ { "allele": "T", "end": 1612, "referenceAllele": "C", "start": 1611 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "XM_006711505.3:c.1174C>T" ], "proteinEffect": { "hgvs": "XP_006711568.1:p.Arg392Ter", "hgvsWellDefined": "XP_006711568.1:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538015" }, { "coordinates": [ { "allele": "T", "end": 1414, "referenceAllele": "C", "start": 1413 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "XM_006711506.3:c.1174C>T" ], "proteinEffect": { "hgvs": "XP_006711569.1:p.Arg392Ter", "hgvsWellDefined": "XP_006711569.1:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538016" }, { "coordinates": [ { "allele": "T", "end": 1822, "referenceAllele": "C", "start": 1821 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "XM_011509937.2:c.1174C>T" ], "proteinEffect": { "hgvs": "XP_011508239.1:p.Arg392Ter", "hgvsWellDefined": "XP_011508239.1:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541498" }, { "coordinates": [ { "allele": "T", "end": 1728, "referenceAllele": "C", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "XM_017002208.1:c.1174C>T" ], "proteinEffect": { "hgvs": "XP_016857697.1:p.Arg392Ter", "hgvsWellDefined": "XP_016857697.1:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS558200" }, { "@id": "http://reg.genome.network/allele/PA118401", "coordinates": [ { "allele": "T", "end": 1781, "referenceAllele": "C", "start": 1780 } ], "gene": "http://reg.genome.network/gene/GN011851", "geneNCBI_id": 7100, "geneSymbol": "TLR5", "hgvs": [ "NM_003268.6:c.1174C>T" ], "proteinEffect": { "hgvs": "NP_003259.2:p.Arg392Ter", "hgvsWellDefined": "NP_003259.2:p.Arg392_Ser858delinsAspAsnAlaLeuThrThrIleHisPheIleProSerIleProAspIlePheLeuSerGlyAsnLysLeuValThrLeuProLysIleAsnLeuThrAlaAsnLeuIleHisLeuSerGluAsnArgLeuGluAsnLeuAspIleLeuTyrPheLeuLeuArgValProHisLeuGlnIleLeuIleLeuAsnGlnAsnArgPheSerSerCysSerGlyAspGlnThrProSerGluAsnProSerLeuGluGlnLeuPheLeuGlyGluAsnMetLeuGlnLeuAlaTrpGluThrGluLeuCysTrpAspValPheGluGlyLeuSerHisLeuGlnValLeuTyrLeuAsnHisAsnTyrLeuAsnSerLeuProProGlyValPheSerHisLeuThrAlaLeuArgGlyLeuSerLeuAsnSerAsnArgLeuThrValLeuSerHisAsnAspLeuProAlaAsnLeuGluIleLeuAspIleSerArgAsnGlnLeuLeuAlaProAsnProAspValPheValSerLeuSerValLeuAspIleThrHisAsnLysPheIleCysGluCysGluLeuSerThrPheIleAsnTrpLeuAsnHisThrAsnValThrIleAlaGlyProProAlaAspIleTyrCysValTyrProAspSerPheSerGlyValSerLeuPheSerLeuSerThrGluGlyCysAspGluGluGluValLeuLysSerLeuLysPheSerLeuPheIleValCysThrValThrLeuThrLeuPheLeuMetThrIleLeuThrValThrLysPheArgGlyPheCysPheIleCysTyrLysThrAlaGlnArgLeuValPheLysAspHisProGlnGlyThrGluProAspMetTyrLysTyrAspAlaTyrLeuCysPheSerSerLysAspPheThrTrpValGlnAsnAlaLeuLeuLysHisLeuAspThrGlnTyrSerAspGlnAsnArgPheAsnLeuCysPheGluGluArgAspPheValProGlyGluAsnArgIleAlaAsnIleGlnAspAlaIleTrpAsnSerArgLysIleValCysLeuValSerArgHisPheLeuArgAspGlyTrpCysLeuGluAlaPheSerTyrAlaGlnGlyArgCysLeuSerAspLeuAsnSerAlaLeuIleMetValValValGlySerLeuSerGlnTyrGlnLeuMetLysHisGlnSerIleArgGlyPheValGlnLysGlnGlnTyrLeuArgTrpProGluAspLeuGlnAspValGlyTrpPheLeuHisLysLeuSerGlnGlnIleLeuLysLysGluLysGluLysLysLysAspAsnAsnIleProLeuGlnThrValAlaThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665958", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642603.2:c.1174C>T" }, "RefSeq": { "hgvs": "NM_003268.6:c.1174C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496355.1:p.Arg392Ter" }, "RefSeq": { "hgvs": "NP_003259.2:p.Arg392Ter" } } } } ], "type": "nucleotide" }